A novel arginine-to-cysteine substitution in the triple helical region of the alpha1(I) collagen chain in a family with an osteogenesis imperfecta/Ehlers-Danlos phenotype

Clin Genet. 2008 Jan;73(1):97-101. doi: 10.1111/j.1399-0004.2007.00926.x. Epub 2007 Nov 17.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Child, Preschool
  • Collagen Type I / chemistry
  • Collagen Type I / genetics*
  • Collagen Type I, alpha 1 Chain
  • Ehlers-Danlos Syndrome / genetics*
  • Family
  • Humans
  • Male
  • Mutation, Missense*
  • Osteogenesis Imperfecta / genetics*
  • Protein Structure, Secondary

Substances

  • Collagen Type I
  • Collagen Type I, alpha 1 Chain